BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 12508303)

  • 1. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M; Hertel K; Zierz S
    Muscle Nerve; 2003 Jan; 27(1):105-7. PubMed ID: 12508303
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M; Opalka JR; Lindner A; Zierz S
    Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
    Gámez J; Rubio JC; Martín MA; Fernández-Cadenas I; Garcia-Arumi E; Andreu AL; Arenas J
    Muscle Nerve; 2003 Sep; 28(3):380-2. PubMed ID: 12929201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
    Rubio JC; Garcia-Consuegra I; Nogales-Gadea G; Blazquez A; Cabello A; Lucia A; Andreu AL; Arenas J; Martin MA
    Hum Mutat; 2007 Feb; 28(2):203-4. PubMed ID: 17221871
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
    Isackson PJ; Tarnopolsky M; Vladutiu GD
    Mol Genet Metab; 2005 Jul; 85(3):239-42. PubMed ID: 15979037
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
    Aquaron R; Bergé-Lefranc JL; Pellissier JF; Montfort MF; Mayan M; Figarella-Branger D; Coquet M; Serratrice G; Pouget J
    Neuromuscul Disord; 2007 Mar; 17(3):235-41. PubMed ID: 17324573
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
    Quintans B; Sanchez-Andrade A; Teijeira S; Fernandez-Hojas R; Rivas E; López MJ; Navarro C
    Arch Neurol; 2004 Jul; 61(7):1108-10. PubMed ID: 15262743
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
    Hadjigeorgiou GM; Papadimitriou A; Musumeci O; Paterakis K; Flabouriari K; Shanske S; DiMauro S
    J Neurol Sci; 2002 Feb; 194(1):83-6. PubMed ID: 11809171
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
    García-Consuegra I; Rubio JC; Nogales-Gadea G; Bautista J; Jiménez S; Cabello A; Lucía A; Andreu AL; Arenas J; Martin MA
    J Med Genet; 2009 Mar; 46(3):198-202. PubMed ID: 19251976
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gene symbol: PYGM. Disease: McArdle disease.
    Viétez I; Teijeira S; San Millán B; Navarro C
    Hum Genet; 2008 Oct; 124(3):307. PubMed ID: 18846641
    [No Abstract]   [Full Text] [Related]  

  • 11. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
    Nogales-Gadea G; Rubio JC; Fernandez-Cadenas I; Garcia-Consuegra I; Lucia A; Cabello A; Garcia-Arumi E; Arenas J; Andreu AL; Martín MA
    Hum Mutat; 2008 Feb; 29(2):277-83. PubMed ID: 17994553
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation analysis in myophosphorylase deficiency (McArdle's disease).
    Vorgerd M; Kubisch C; Burwinkel B; Reichmann H; Mortier W; Tettenborn B; Pongratz D; Lindemuth R; Tegenthoff M; Malin JP; Kilimann MW
    Ann Neurol; 1998 Mar; 43(3):326-31. PubMed ID: 9506549
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.
    Sohn EH; Kim HS; Lee AY; Fukuda T; Sugie H; Kim DS
    Neuromuscul Disord; 2008 Nov; 18(11):886-9. PubMed ID: 18667317
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Otolano S; Parente P; San Millán B; Navarro C
    Hum Genet; 2009 Apr; 125(3):352. PubMed ID: 19320040
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; San Millán B; Navarro C
    Hum Genet; 2009 Apr; 125(3):349. PubMed ID: 19320035
    [No Abstract]   [Full Text] [Related]  

  • 16. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Millán BS; Navarro C
    Hum Genet; 2009 Apr; 125(3):343. PubMed ID: 19320018
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Millán BS; Navarro C
    Hum Genet; 2009 Apr; 125(3):339. PubMed ID: 19309786
    [No Abstract]   [Full Text] [Related]  

  • 18. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
    Vissing J; Duno M; Schwartz M; Haller RG
    Brain; 2009 Jun; 132(Pt 6):1545-52. PubMed ID: 19433441
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
    Delmont E; Sacconi S; Berge-Lefranc JL; Aquaron R; Butori C; Desnuelle C
    Rev Neurol (Paris); 2008 Nov; 164(11):912-6. PubMed ID: 18808785
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I; Teijeira S; Miranda S; San Millán B; Navarro C
    Hum Genet; 2010 Jan; 127(1):114-5. PubMed ID: 20108426
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.